SNP Links for Gene (Select 55646) - SNP

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Items: 1 to 20 of 1000

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Select item 14914843201.

rs1491484320 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:4274249 (GRCh38)
4:4275977 (GRCh37)
Canonical SPDI:: NC_000004.12:4274249::C
Gene:: LYAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000071/1 (TOMMO)
HGVS:: NC_000004.12:g.4274249_4274250insC, NC_000004.11:g.4275976_4275977insC

Select item 14913786822.

rs1491378682 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:4274259 (GRCh38)
4:4275987 (GRCh37)
Canonical SPDI:: NC_000004.12:4274259:CC:CCC
Gene:: LYAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0.000084/1 (ALFA)
C=0.000043/6 (GnomAD)
C=0.000071/1 (TOMMO)
C=0.003275/6 (Korea1K)
HGVS:: NC_000004.12:g.4274261dup, NC_000004.11:g.4275988dup

Select item 14911664623.

rs1491166462 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 4:4274259 (GRCh38)
4:4275986 (GRCh37)
Canonical SPDI:: NC_000004.12:4274258:AC:
Gene:: LYAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.4274259_4274260del, NC_000004.11:g.4275986_4275987del

Select item 14910479154.

rs1491047915 has merged into rs3832294 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 4:4290195 (GRCh38)
4:4291922 (GRCh37)
Canonical SPDI:: NC_000004.12:4290188:CCCCCCCC:CCCCCC,NC_000004.12:4290188:CCCCCCCC:CCCCCCC,NC_000004.12:4290188:CCCCCCCC:CCCCCCCCC,NC_000004.12:4290188:CCCCCCCC:CCCCCCCCCC,NC_000004.12:4290188:CCCCCCCC:CCCCCCCCCCC,NC_000004.12:4290188:CCCCCCCC:CCCCCCCCCCCC,NC_000004.12:4290188:CCCCCCCC:CCCCCCCCCCCCC,NC_000004.12:4290188:CCCCCCCC:CCCCCCCCCCCCCC,NC_000004.12:4290188:CCCCCCCC:CCCCCCCCCCCCCCC,NC_000004.12:4290188:CCCCCCCC:CCCCCCCCCCCCCCCC,NC_000004.12:4290188:CCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000004.12:4290188:CCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000004.12:4290188:CCCCCCCC:CCCCCCCCCCCCCCCCCCCC
Gene:: LYAR (Varview), ZBTB49 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCC=0./0 (ALFA)
CC=0.0223/48 (1000Genomes)
-=0.3744/1642 (Estonian)
HGVS:: NC_000004.12:g.4290195_4290196del, NC_000004.12:g.4290196del, NC_000004.12:g.4290196dup, NC_000004.12:g.4290195_4290196dup, NC_000004.12:g.4290194_4290196dup, NC_000004.12:g.4290193_4290196dup, NC_000004.12:g.4290192_4290196dup, NC_000004.12:g.4290191_4290196dup, NC_000004.12:g.4290190_4290196dup, NC_000004.12:g.4290189_4290196dup, NC_000004.12:g.4290196_4290197insCCCCCCCCC, NC_000004.12:g.4290196_4290197insCCCCCCCCCCC, NC_000004.12:g.4290196_4290197insCCCCCCCCCCCC, NC_000004.11:g.4291922_4291923del, NC_000004.11:g.4291923del, NC_000004.11:g.4291923dup, NC_000004.11:g.4291922_4291923dup, NC_000004.11:g.4291921_4291923dup, NC_000004.11:g.4291920_4291923dup, NC_000004.11:g.4291919_4291923dup, NC_000004.11:g.4291918_4291923dup, NC_000004.11:g.4291917_4291923dup, NC_000004.11:g.4291916_4291923dup, NC_000004.11:g.4291923_4291924insCCCCCCCCC, NC_000004.11:g.4291923_4291924insCCCCCCCCCCC, NC_000004.11:g.4291923_4291924insCCCCCCCCCCCC

Select item 14910138545.

rs1491013854 has merged into rs11377872 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:4270278 (GRCh38)
4:4272005 (GRCh37)
Canonical SPDI:: NC_000004.12:4270268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:4270268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:4270268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:4270268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:4270268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:4270268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:4270268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:4270268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:4270268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:4270268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:4270268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:4270268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:4270268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:4270268:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LYAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.3796/1901 (1000Genomes)
HGVS:: NC_000004.12:g.4270278_4270287del, NC_000004.12:g.4270279_4270287del, NC_000004.12:g.4270280_4270287del, NC_000004.12:g.4270283_4270287del, NC_000004.12:g.4270284_4270287del, NC_000004.12:g.4270285_4270287del, NC_000004.12:g.4270286_4270287del, NC_000004.12:g.4270287del, NC_000004.12:g.4270287dup, NC_000004.12:g.4270286_4270287dup, NC_000004.12:g.4270285_4270287dup, NC_000004.12:g.4270284_4270287dup, NC_000004.12:g.4270283_4270287dup, NC_000004.12:g.4270279_4270287dup, NC_000004.11:g.4272005_4272014del, NC_000004.11:g.4272006_4272014del, NC_000004.11:g.4272007_4272014del, NC_000004.11:g.4272010_4272014del, NC_000004.11:g.4272011_4272014del, NC_000004.11:g.4272012_4272014del, NC_000004.11:g.4272013_4272014del, NC_000004.11:g.4272014del, NC_000004.11:g.4272014dup, NC_000004.11:g.4272013_4272014dup, NC_000004.11:g.4272012_4272014dup, NC_000004.11:g.4272011_4272014dup, NC_000004.11:g.4272010_4272014dup, NC_000004.11:g.4272006_4272014dup

Select item 14908642716.

rs1490864271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:4286567 (GRCh38)
4:4288294 (GRCh37)
Canonical SPDI:: NC_000004.12:4286566:C:G
Gene:: LYAR (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.4286567C>G, NC_000004.11:g.4288294C>G, NM_017816.3:c.-102G>C, NM_017816.2:c.-102G>C, XM_011513505.2:c.-102G>C, XM_011513505.1:c.-102G>C, NM_001145725.2:c.-102G>C, NM_001145725.1:c.-102G>C

Select item 14907201247.

rs1490720124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:4290111 (GRCh38)
4:4291838 (GRCh37)
Canonical SPDI:: NC_000004.12:4290110:G:A
Gene:: LYAR (Varview), ZBTB49 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000042/11 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000004.12:g.4290111G>A, NC_000004.11:g.4291838G>A, XM_011513506.4:c.-129C>T, XM_011513506.3:c.-129C>T, XM_011513506.2:c.-129C>T, XM_011513506.1:c.-129C>T, NM_017816.3:c.-183C>T, NM_017816.2:c.-183C>T, XM_011513505.2:c.-616C>T

Select item 14906491308.

rs1490649130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:4276248 (GRCh38)
4:4277975 (GRCh37)
Canonical SPDI:: NC_000004.12:4276247:T:G
Gene:: LYAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.4276248T>G, NC_000004.11:g.4277975T>G

Select item 14906291719.

rs1490629171 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:4279915 (GRCh38)
4:4281642 (GRCh37)
Canonical SPDI:: NC_000004.12:4279914:T:C
Gene:: LYAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.4279915T>C, NC_000004.11:g.4281642T>C

Select item 149060714310.

rs1490607143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:4278817 (GRCh38)
4:4280544 (GRCh37)
Canonical SPDI:: NC_000004.12:4278816:G:T
Gene:: LYAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.4278817G>T, NC_000004.11:g.4280544G>T

Select item 149002844211.

rs1490028442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:4272942 (GRCh38)
4:4274669 (GRCh37)
Canonical SPDI:: NC_000004.12:4272941:G:A
Gene:: LYAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.4272942G>A, NC_000004.11:g.4274669G>A

Select item 148999952112.

rs1489999521 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:4285676 (GRCh38)
4:4287403 (GRCh37)
Canonical SPDI:: NC_000004.12:4285675:A:G
Gene:: LYAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00005/7 (GnomAD)
G=0.00006/16 (TOPMED)
HGVS:: NC_000004.12:g.4285676A>G, NC_000004.11:g.4287403A>G

Select item 148992860413.

rs1489928604 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:4284841 (GRCh38)
4:4286568 (GRCh37)
Canonical SPDI:: NC_000004.12:4284840:T:G
Gene:: LYAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.4284841T>G, NC_000004.11:g.4286568T>G

Select item 148992016714.

rs1489920167 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:4271601 (GRCh38)
4:4273328 (GRCh37)
Canonical SPDI:: NC_000004.12:4271600:A:G
Gene:: LYAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.4271601A>G, NC_000004.11:g.4273328A>G

Select item 148972677115.

rs1489726771 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>C
Chromosome:: no mapping
Canonical SPDI:

Select item 148952797816.

rs1489527978 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:4276915 (GRCh38)
4:4278642 (GRCh37)
Canonical SPDI:: NC_000004.12:4276914:A:C
Gene:: LYAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.4276915A>C, NC_000004.11:g.4278642A>C

Select item 148932869717.

rs1489328697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:4267262 (GRCh38)
4:4268989 (GRCh37)
Canonical SPDI:: NC_000004.12:4267261:A:G
Gene:: LYAR (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.4267262A>G, NC_000004.11:g.4268989A>G

Select item 148924225218.

rs1489242252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:4281751 (GRCh38)
4:4283478 (GRCh37)
Canonical SPDI:: NC_000004.12:4281750:G:A
Gene:: LYAR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.4281751G>A, NC_000004.11:g.4283478G>A

Select item 148921208419.

rs1489212084 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:4274546 (GRCh38)
4:4276273 (GRCh37)
Canonical SPDI:: NC_000004.12:4274545:T:C,NC_000004.12:4274545:T:G
Gene:: LYAR (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.4274546T>C, NC_000004.12:g.4274546T>G, NC_000004.11:g.4276273T>C, NC_000004.11:g.4276273T>G, XM_011513506.4:c.653A>G, XM_011513506.4:c.653A>C, XM_011513506.3:c.653A>G, XM_011513506.3:c.653A>C, XM_011513506.2:c.653A>G, XM_011513506.2:c.653A>C, XM_011513506.1:c.653A>G, XM_011513506.1:c.653A>C, NM_017816.3:c.653A>G, NM_017816.3:c.653A>C, NM_017816.2:c.653A>G, NM_017816.2:c.653A>C, XM_011513505.2:c.653A>G, XM_011513505.2:c.653A>C, XM_011513505.1:c.653A>G, XM_011513505.1:c.653A>C, NM_001145725.2:c.653A>G, NM_001145725.2:c.653A>C, NM_001145725.1:c.653A>G, NM_001145725.1:c.653A>C, XP_011511808.1:p.Gln218Arg, XP_011511808.1:p.Gln218Pro, NP_060286.1:p.Gln218Arg, NP_060286.1:p.Gln218Pro, XP_011511807.1:p.Gln218Arg, XP_011511807.1:p.Gln218Pro, NP_001139197.1:p.Gln218Arg, NP_001139197.1:p.Gln218Pro

Select item 148904008320.

rs1489040083 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:4292071 (GRCh38)
4:4293798 (GRCh37)
Canonical SPDI:: NC_000004.12:4292070:G:C
Gene:: LYAR (Varview), ZBTB49 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.4292071G>C, NC_000004.11:g.4293798G>C

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